Selected papers from the 13th Annual Bio-Ontologies Special Interest Group Meeting

Over the years, the Bio-Ontologies SIG at ISMB has provided a forum for discussion of the latest and most innovative research in the application of ontologies and more generally the organisation, presentation and dissemination of knowledge in biomedicine and the life sciences. The ten papers selected for this supplement are extended versions of the original papers presented at the 2010 SIG. The papers span a wide range of topics including practical solutions for data and knowledge integration for translational medicine, hypothesis based querying , understanding kidney and urinary pathways, mining the pharmacogenomics literature; theoretical research into the orthogonality of biomedical ontologies, the representation of diseases, the representation of research hypotheses, the combination of ontologies and natural language processing for an annotation framework, the generation of textual definitions, and the discovery of gene interaction networks

New Frontiers of Quantified Self: Finding New Ways for Engaging Users in Collecting and Using Personal Data

In spite of the fast growth in the market of devices and applications that allow people to collect personal information, Quantified Self (QS) tools still present a variety of issues when they are used in everyday lives of common people. In this workshop we aim at exploring new ways for designing QS systems, by gathering different researchers in a unique place for imagining how the tracking, management, interpretation and visualization of personal data could be addressed in the future

Cross-Domain information extraction from scientific articles for research knowledge graphs

Today’s scholarly communication is a document-centred process and as such, rather inefficient. Fundamental contents of research papers are not accessible by computers since they are only present in unstructured PDF files. Therefore, current research infrastructures are not able to assist scientists appropriately in their core research tasks. This thesis addresses this issue and proposes methods to automatically extract relevant information from scientific articles for Research Knowledge Graphs (RKGs) that represent scholarly knowledge structured and interlinked. First, this thesis conducts a requirements analysis for an Open Research Knowledge Graph (ORKG). We present literature-related use cases of researchers that should be supported by an ORKG-based system and their specific requirements for the underlying ontology and instance data. Based on this analysis, the identified use cases are categorised into two groups: The first group of use cases needs manual or semi-automatic approaches for knowledge graph (KG) construction since they require high correctness of the instance data. The second group requires high completeness and can tolerate noisy instance data. Thus, this group needs automatic approaches for KG population. This thesis focuses on the second group of use cases and provides contributions for machine learning tasks that aim to support them. To assess the relevance of a research paper, scientists usually skim through titles, abstracts, introductions, and conclusions. An organised presentation of the articles' essential information would make this process more time-efficient. The task of sequential sentence classification addresses this issue by classifying sentences in an article in categories like research problem, used methods, or obtained results. To address this problem, we propose a novel unified cross-domain multi-task deep learning approach that makes use of datasets from different scientific domains (e.g. biomedicine and computer graphics) and varying structures (e.g. datasets covering either only abstracts or full papers). Our approach outperforms the state of the art on full paper datasets significantly while being competitive for datasets consisting of abstracts. Moreover, our approach enables the categorisation of sentences in a domain-independent manner. Furthermore, we present the novel task of domain-independent information extraction to extract scientific concepts from research papers in a domain-independent manner. This task aims to support the use cases find related work and get recommended articles. For this purpose, we introduce a set of generic scientific concepts that are relevant over ten domains in Science, Technology, and Medicine (STM) and release an annotated dataset of 110 abstracts from these domains. Since the annotation of scientific text is costly, we suggest an active learning strategy based on a state-of-the-art deep learning approach. The proposed method enables us to nearly halve the amount of required training data. Then, we extend this domain-independent information extraction approach with the task of \textit{coreference resolution}. Coreference resolution aims to identify mentions that refer to the same concept or entity. Baseline results on our corpus with current state-of-the-art approaches for coreference resolution showed that current approaches perform poorly on scientific text. Therefore, we propose a sequential transfer learning approach that exploits annotated datasets from non-academic domains. Our experimental results demonstrate that our approach noticeably outperforms the state-of-the-art baselines. Additionally, we investigate the impact of coreference resolution on KG population. We demonstrate that coreference resolution has a small impact on the number of resulting concepts in the KG, but improved its quality significantly. Consequently, using our domain-independent information extraction approach, we populate an RKG from 55,485 abstracts of the ten investigated STM domains. We show that every domain mainly uses its own terminology and that the populated RKG contains useful concepts. Moreover, we propose a novel approach for the task of \textit{citation recommendation}. This task can help researchers improve the quality of their work by finding or recommending relevant related work. Our approach exploits RKGs that interlink research papers based on mentioned scientific concepts. Using our automatically populated RKG, we demonstrate that the combination of information from RKGs with existing state-of-the-art approaches is beneficial. Finally, we conclude the thesis and sketch possible directions of future work.Die Kommunikation von Forschungsergebnissen erfolgt heutzutage in Form von Dokumenten und ist aus verschiedenen Gründen ineffizient. Wesentliche Inhalte von Forschungsarbeiten sind für Computer nicht zugänglich, da sie in unstrukturierten PDF-Dateien verborgen sind. Daher können derzeitige Forschungsinfrastrukturen Forschende bei ihren Kernaufgaben nicht angemessen unterstützen. Diese Arbeit befasst sich mit dieser Problemstellung und untersucht Methoden zur automatischen Extraktion von relevanten Informationen aus Forschungspapieren für Forschungswissensgraphen (Research Knowledge Graphs). Solche Graphen sollen wissenschaftliches Wissen maschinenlesbar strukturieren und verknüpfen. Zunächst wird eine Anforderungsanalyse für einen Open Research Knowledge Graph (ORKG) durchgeführt. Wir stellen literaturbezogene Anwendungsfälle von Forschenden vor, die durch ein ORKG-basiertes System unterstützt werden sollten, und deren spezifische Anforderungen an die zugrundeliegende Ontologie und die Instanzdaten. Darauf aufbauend werden die identifizierten Anwendungsfälle in zwei Gruppen eingeteilt: Die erste Gruppe von Anwendungsfällen benötigt manuelle oder halbautomatische Ansätze für die Konstruktion eines ORKG, da sie eine hohe Korrektheit der Instanzdaten erfordern. Die zweite Gruppe benötigt eine hohe Vollständigkeit der Instanzdaten und kann fehlerhafte Daten tolerieren. Daher erfordert diese Gruppe automatische Ansätze für die Konstruktion des ORKG. Diese Arbeit fokussiert sich auf die zweite Gruppe von Anwendungsfällen und schlägt Methoden für maschinelle Aufgabenstellungen vor, die diese Anwendungsfälle unterstützen können. Um die Relevanz eines Forschungsartikels effizient beurteilen zu können, schauen sich Forschende in der Regel die Titel, Zusammenfassungen, Einleitungen und Schlussfolgerungen an. Durch eine strukturierte Darstellung von wesentlichen Informationen des Artikels könnte dieser Prozess zeitsparender gestaltet werden. Die Aufgabenstellung der sequenziellen Satzklassifikation befasst sich mit diesem Problem, indem Sätze eines Artikels in Kategorien wie Forschungsproblem, verwendete Methoden oder erzielte Ergebnisse automatisch klassifiziert werden. In dieser Arbeit wird für diese Aufgabenstellung ein neuer vereinheitlichter Multi-Task Deep-Learning-Ansatz vorgeschlagen, der Datensätze aus verschiedenen wissenschaftlichen Bereichen (z. B. Biomedizin und Computergrafik) mit unterschiedlichen Strukturen (z. B. Datensätze bestehend aus Zusammenfassungen oder vollständigen Artikeln) nutzt. Unser Ansatz übertrifft State-of-the-Art-Verfahren der Literatur auf Benchmark-Datensätzen bestehend aus vollständigen Forschungsartikeln. Außerdem ermöglicht unser Ansatz die Klassifizierung von Sätzen auf eine domänenunabhängige Weise. Darüber hinaus stellen wir die neue Aufgabenstellung domänenübergreifende Informationsextraktion vor. Hierbei werden, unabhängig vom behandelten wissenschaftlichen Fachgebiet, inhaltliche Konzepte aus Forschungspapieren extrahiert. Damit sollen die Anwendungsfälle Finden von verwandten Arbeiten und Empfehlung von Artikeln unterstützt werden. Zu diesem Zweck führen wir eine Reihe von generischen wissenschaftlichen Konzepten ein, die in zehn Bereichen der Wissenschaft, Technologie und Medizin (STM) relevant sind, und veröffentlichen einen annotierten Datensatz von 110 Zusammenfassungen aus diesen Bereichen. Da die Annotation wissenschaftlicher Texte aufwändig ist, kombinieren wir ein Active-Learning-Verfahren mit einem aktuellen Deep-Learning-Ansatz, um die notwendigen Trainingsdaten zu reduzieren. Die vorgeschlagene Methode ermöglicht es uns, die Menge der erforderlichen Trainingsdaten nahezu zu halbieren. Anschließend erweitern wir unseren domänenunabhängigen Ansatz zur Informationsextraktion um die Aufgabe der Koreferenzauflösung. Die Auflösung von Koreferenzen zielt darauf ab, Erwähnungen zu identifizieren, die sich auf dasselbe Konzept oder dieselbe Entität beziehen. Experimentelle Ergebnisse auf unserem Korpus mit aktuellen Ansätzen zur Koreferenzauflösung haben gezeigt, dass diese bei wissenschaftlichen Texten unzureichend abschneiden. Daher schlagen wir eine Transfer-Learning-Methode vor, die annotierte Datensätze aus nicht-akademischen Bereichen nutzt. Die experimentellen Ergebnisse zeigen, dass unser Ansatz deutlich besser abschneidet als die bisherigen Ansätze. Darüber hinaus untersuchen wir den Einfluss der Koreferenzauflösung auf die Erstellung von Wissensgraphen. Wir zeigen, dass diese einen geringen Einfluss auf die Anzahl der resultierenden Konzepte in dem Wissensgraphen hat, aber die Qualität des Wissensgraphen deutlich verbessert. Mithilfe unseres domänenunabhängigen Ansatzes zur Informationsextraktion haben wir aus 55.485 Zusammenfassungen der zehn untersuchten STM-Domänen einen Forschungswissensgraphen erstellt. Unsere Analyse zeigt, dass jede Domäne hauptsächlich ihre eigene Terminologie verwendet und dass der erstellte Wissensgraph nützliche Konzepte enthält. Schließlich schlagen wir einen Ansatz für die Empfehlung von passenden Referenzen vor. Damit können Forschende einfacher relevante verwandte Arbeiten finden oder passende Empfehlungen erhalten. Unser Ansatz nutzt Forschungswissensgraphen, die Forschungsarbeiten mit in ihnen erwähnten wissenschaftlichen Konzepten verknüpfen. Wir zeigen, dass aktuelle Verfahren zur Empfehlung von Referenzen von zusätzlichen Informationen aus einem automatisch erstellten Wissensgraphen profitieren. Zum Schluss wird ein Fazit gezogen und ein Ausblick für mögliche zukünftige Arbeiten gegeben

Ontology Enrichment from Free-text Clinical Documents: A Comparison of Alternative Approaches

While the biomedical informatics community widely acknowledges the utility of domain ontologies, there remain many barriers to their effective use. One important requirement of domain ontologies is that they achieve a high degree of coverage of the domain concepts and concept relationships. However, the development of these ontologies is typically a manual, time-consuming, and often error-prone process. Limited resources result in missing concepts and relationships, as well as difficulty in updating the ontology as domain knowledge changes. Methodologies developed in the fields of Natural Language Processing (NLP), Information Extraction (IE), Information Retrieval (IR), and Machine Learning (ML) provide techniques for automating the enrichment of ontology from free-text documents. In this dissertation, I extended these methodologies into biomedical ontology development. First, I reviewed existing methodologies and systems developed in the fields of NLP, IR, and IE, and discussed how existing methods can benefit the development of biomedical ontologies. This previously unconducted review was published in the Journal of Biomedical Informatics. Second, I compared the effectiveness of three methods from two different approaches, the symbolic (the Hearst method) and the statistical (the Church and Lin methods), using clinical free-text documents. Third, I developed a methodological framework for Ontology Learning (OL) evaluation and comparison. This framework permits evaluation of the two types of OL approaches that include three OL methods. The significance of this work is as follows: 1) The results from the comparative study showed the potential of these methods for biomedical ontology enrichment. For the two targeted domains (NCIT and RadLex), the Hearst method revealed an average of 21% and 11% new concept acceptance rates, respectively. The Lin method produced a 74% acceptance rate for NCIT; the Church method, 53%. As a result of this study (published in the Journal of Methods of Information in Medicine), many suggested candidates have been incorporated into the NCIT; 2) The evaluation framework is flexible and general enough that it can analyze the performance of ontology enrichment methods for many domains, thus expediting the process of automation and minimizing the likelihood that key concepts and relationships would be missed as domain knowledge evolves

Thirty years of artificial intelligence in medicine (AIME) conferences: A review of research themes

Over the past 30 years, the international conference on Artificial Intelligence in MEdicine (AIME) has been organized at different venues across Europe every 2 years, establishing a forum for scientific exchange and creating an active research community. The Artificial Intelligence in Medicine journal has published theme issues with extended versions of selected AIME papers since 1998

A Dependency Parsing Approach to Biomedical Text Mining

Biomedical research is currently facing a new type of challenge: an excess of information, both in terms of raw data from experiments and in the number of scientific publications describing their results. Mirroring the focus on data mining techniques to address the issues of structured data, there has recently been great interest in the development and application of text mining techniques to make more effective use of the knowledge contained in biomedical scientific publications, accessible only in the form of natural human language. This thesis describes research done in the broader scope of projects aiming to develop methods, tools and techniques for text mining tasks in general and for the biomedical domain in particular. The work described here involves more specifically the goal of extracting information from statements concerning relations of biomedical entities, such as protein-protein interactions. The approach taken is one using full parsing—syntactic analysis of the entire structure of sentences—and machine learning, aiming to develop reliable methods that can further be generalized to apply also to other domains. The five papers at the core of this thesis describe research on a number of distinct but related topics in text mining. In the first of these studies, we assessed the applicability of two popular general English parsers to biomedical text mining and, finding their performance limited, identified several specific challenges to accurate parsing of domain text. In a follow-up study focusing on parsing issues related to specialized domain terminology, we evaluated three lexical adaptation methods. We found that the accurate resolution of unknown words can considerably improve parsing performance and introduced a domain-adapted parser that reduced the error rate of theoriginal by 10% while also roughly halving parsing time. To establish the relative merits of parsers that differ in the applied formalisms and the representation given to their syntactic analyses, we have also developed evaluation methodology, considering different approaches to establishing comparable dependency-based evaluation results. We introduced a methodology for creating highly accurate conversions between different parse representations, demonstrating the feasibility of unification of idiverse syntactic schemes under a shared, application-oriented representation. In addition to allowing formalism-neutral evaluation, we argue that such unification can also increase the value of parsers for domain text mining. As a further step in this direction, we analysed the characteristics of publicly available biomedical corpora annotated for protein-protein interactions and created tools for converting them into a shared form, thus contributing also to the unification of text mining resources. The introduced unified corpora allowed us to perform a task-oriented comparative evaluation of biomedical text mining corpora. This evaluation established clear limits on the comparability of results for text mining methods evaluated on different resources, prompting further efforts toward standardization. To support this and other research, we have also designed and annotated BioInfer, the first domain corpus of its size combining annotation of syntax and biomedical entities with a detailed annotation of their relationships. The corpus represents a major design and development effort of the research group, with manual annotation that identifies over 6000 entities, 2500 relationships and 28,000 syntactic dependencies in 1100 sentences. In addition to combining these key annotations for a single set of sentences, BioInfer was also the first domain resource to introduce a representation of entity relations that is supported by ontologies and able to capture complex, structured relationships. Part I of this thesis presents a summary of this research in the broader context of a text mining system, and Part II contains reprints of the five included publications.Siirretty Doriast

Boosting Drug Named Entity Recognition using an Aggregate Classifier

AbstractObjectiveDrug named entity recognition (NER) is a critical step for complex biomedical NLP tasks such as the extraction of pharmacogenomic, pharmacodynamic and pharmacokinetic parameters. Large quantities of high quality training data are almost always a prerequisite for employing supervised machine-learning techniques to achieve high classification performance. However, the human labour needed to produce and maintain such resources is a significant limitation. In this study, we improve the performance of drug NER without relying exclusively on manual annotations.MethodsWe perform drug NER using either a small gold-standard corpus (120 abstracts) or no corpus at all. In our approach, we develop a voting system to combine a number of heterogeneous models, based on dictionary knowledge, gold-standard corpora and silver annotations, to enhance performance. To improve recall, we employed genetic programming to evolve 11 regular-expression patterns that capture common drug suffixes and used them as an extra means for recognition.MaterialsOur approach uses a dictionary of drug names, i.e. DrugBank, a small manually annotated corpus, i.e. the pharmacokinetic corpus, and a part of the UKPMC database, as raw biomedical text. Gold-standard and silver annotated data are used to train maximum entropy and multinomial logistic regression classifiers.ResultsAggregating drug NER methods, based on gold-standard annotations, dictionary knowledge and patterns, improved the performance on models trained on gold-standard annotations, only, achieving a maximum F-score of 95%. In addition, combining models trained on silver annotations, dictionary knowledge and patterns are shown to achieve comparable performance to models trained exclusively on gold-standard data. The main reason appears to be the morphological similarities shared among drug names.ConclusionWe conclude that gold-standard data are not a hard requirement for drug NER. Combining heterogeneous models build on dictionary knowledge can achieve similar or comparable classification performance with that of the best performing model trained on gold-standard annotations

Getting Past the Language Gap: Innovations in Machine Translation

In this chapter, we will be reviewing state of the art machine translation systems, and will discuss innovative methods for machine translation, highlighting the most promising techniques and applications. Machine translation (MT) has benefited from a revitalization in the last 10 years or so, after a period of relatively slow activity. In 2005 the field received a jumpstart when a powerful complete experimental package for building MT systems from scratch became freely available as a result of the unified efforts of the MOSES international consortium. Around the same time, hierarchical methods had been introduced by Chinese researchers, which allowed the introduction and use of syntactic information in translation modeling. Furthermore, the advances in the related field of computational linguistics, making off-the-shelf taggers and parsers readily available, helped give MT an additional boost. Yet there is still more progress to be made. For example, MT will be enhanced greatly when both syntax and semantics are on board: this still presents a major challenge though many advanced research groups are currently pursuing ways to meet this challenge head-on. The next generation of MT will consist of a collection of hybrid systems. It also augurs well for the mobile environment, as we look forward to more advanced and improved technologies that enable the working of Speech-To-Speech machine translation on hand-held devices, i.e. speech recognition and speech synthesis. We review all of these developments and point out in the final section some of the most promising research avenues for the future of MT

Building a biomedical ontology recommender web service

<p>Abstract</p> <p>Background</p> <p>Researchers in biomedical informatics use ontologies and terminologies to annotate their data in order to facilitate data integration and translational discoveries. As the use of ontologies for annotation of biomedical datasets has risen, a common challenge is to identify ontologies that are best suited to annotating specific datasets. The number and variety of biomedical ontologies is large, and it is cumbersome for a researcher to figure out which ontology to use.</p> <p>Methods</p> <p>We present the <it>Biomedical Ontology Recommender web service</it>. The system uses textual metadata or a set of keywords describing a domain of interest and suggests appropriate ontologies for annotating or representing the data. The service makes a decision based on three criteria. The first one is <it>coverage</it>, or the ontologies that provide most terms covering the input text. The second is <it>connectivity</it>, or the ontologies that are most often mapped to by other ontologies. The final criterion is <it>size</it>, or the number of concepts in the ontologies. The service scores the ontologies as a function of scores of the annotations created using the National Center for Biomedical Ontology (NCBO) <it>Annotator web service</it>. We used all the ontologies from the UMLS Metathesaurus and the NCBO BioPortal.</p> <p>Results</p> <p>We compare and contrast our Recommender by an exhaustive functional comparison to previously published efforts. We evaluate and discuss the results of several recommendation heuristics in the context of three real world use cases. The best recommendations heuristics, rated ‘very relevant’ by expert evaluators, are the ones based on coverage and connectivity criteria. The Recommender service (alpha version) is available to the community and is embedded into BioPortal.</p